Pyruvate dehydrogenase deficiency restricted to brain.
We studied a child with a rapidly progressive neurologic disorder, with psychomotor retardation, hypotonia, seizures, and respiratory disturbances. Laboratory studied showed elevated levels of lactate and pyruvate in cerebrospinal fluid (CSF), without notable elevated levels in serum. In liver, muscle, leukocytes, and cultured fibroblasts we found no abnormality in pyruvate oxidation; biochemical studies of a brain biopsy showed an isolated deficiency of pyruvate dehydrogenase complex in brain tissue with the morphologic picture of progressive poliodystrophy with hypomyelination.
D001927:Brain Diseases / Q000201:enzymology* / Q000473:pathology; D002245:Carbon Dioxide / Q000096:biosynthesis; D002952:Citric Acid Cycle; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007773:Lactates / Q000134:cerebrospinal fluid; D010084:Oxidation-Reduction; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D011773:Pyruvates / Q000134:cerebrospinal fluid / Q000378:metabolism
D007773:Lactates; D011773:Pyruvates; D002245:Carbon Dioxide